Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
New Haven, United States. In Ann Thorac Surg, Nov 2015
The following 21-gene panel was tested by WES: ACTA2, ADAMTS10, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ELN, FBLN4, FLNA, FBN1, FBN2, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2.
Transcriptome comparisons identify new cell markers for theca interna and granulosa cells from small and large antral ovarian follicles.
Adelaide, Australia. In Plos One, 2014
Many genes up regulated in theca interna were common to both sizes of follicles (MGP, DCN, ASPN, ALDH1A1, COL1A2, FN1, COL3A1, OGN, APOD, COL5A2, IGF2, NID1, LHFP, ACTA2, DUSP12, ACTG2, SPARCL1, FILIP1L, EGFLAM, ADAMDEC1, HPGD, COL12A1, FBLN5, RAMP2, COL15A1, PLK2, COL6A3, LOXL1, RARRES1, FLI1, LAMA2).
Analysis of gene expression in cyclooxygenase-2-overexpressed human osteosarcoma cell lines.
Ch'unch'ŏn, South Korea. In Genomics Inform, 2014
Among the upregulated genes, COL1A1, COL5A2, FBN1, HOXD10, RUNX2, and TRAPPC2are involved in bone and skeletal system development, while DDR2, RAC2, RUNX2, and TSPAN31are involved in the positive regulation of cell proliferation.
Microarray-based detection and expression analysis of extracellular matrix proteins in drug‑resistant ovarian cancer cell lines.
Poznań, Poland. In Oncol Rep, 2014
These genes were: ITGB1BP3, COL3A1, COL5A2, COL15A1, TGFBI, DCN, LUM, MATN2, POSTN and EGFL6.
Screening of diagnostic markers for osteosarcoma.
Shanghai, China. In Mol Med Report, 2014
Finally, three differentially‑expressed genes GJA1, COL1A2 and COL5A2 were identified, and an interaction network was successfully generated with COL1A2 and COL5A2 at the core.
Integrative network analysis of TCGA data for ovarian cancer.
Evanston, United States. In Bmc Syst Biol, 2013
We built a Bayesian network model with a logit link function to quantify the causal relationships among these features and discovered a set of 13 hub genes including ARID1A, C19orf53, CSKN2A1 and COL5A2.
Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.
Richmond, United States. In Placenta, 2009
The responsible genes include COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, TNXB, PLOD1, ADAMTS2, CRTAP, LEPRE1 and ZMPSTE24.
Ehlers-Danlos Syndrome, Classic Type
Seattle, United States. In Unknown Journal, 2007
At least 50% of individuals with classic EDS have an identifiable pathogenic variant in COL5A1 or COL5A2, the genes encoding type V collagen; however, this number may be an underestimate, since no prospective molecular studies of COL5A1 and COL5A2 have been performed in a clinically well-defined group.
Molecular genetics in classic Ehlers-Danlos syndrome.
Gent, Belgium. In Am J Med Genet C Semin Med Genet, 2005
Mutations in the COL5A1 and the COL5A2 gene, encoding the alpha1 and the alpha2-chain of type V collagen respectively, are identified in approximately 50% of patients with a clinical diagnosis of classic EDS.